Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

Abstract Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder caused by variants in the DHCR7 gene. In cholesterol biosynthesis, 7‐dehydrocholesterol (7‐DHC) is converted to cholesterol by the enzyme 7‐DHC reductase, which is encoded by the gene DHCR7. Thus, an elevated 7‐D...

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Bibliographic Details
Main Authors: Suzanna E. L. Temple, Rani Sachdev, Carolyn Ellaway
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:JIMD Reports
Subjects:
7‐dehydrocholesterol
DHCR7
holoprosencephaly
Smith‐Lemli‐Opitz syndrome
Online Access:https://doi.org/10.1002/jmd2.12155

Internet

https://doi.org/10.1002/jmd2.12155

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